Scimitar syndrome: A rare disease with unusual presentation

Area of Science:

• Cardiology
• Pulmonology
• Medical Genetics

Background:

• Scimitar syndrome is a rare congenital anomaly characterized by anomalous venous return of the right pulmonary veins to the systemic venous circulation.
• Its clinical presentation is highly variable and often depends on the presence of associated cardiac or pulmonary anomalies.
• In adult patients, the syndrome may remain asymptomatic or present with non-specific respiratory or cardiovascular symptoms.

Purpose of the Study:

• To describe the varied clinical presentations of Scimitar syndrome in adult patients.
• To highlight the common and uncommon manifestations of this rare congenital disorder in adulthood.
• To emphasize the importance of considering Scimitar syndrome in the differential diagnosis of adult patients with recurrent respiratory symptoms.

Main Methods:

• This study is a review of the literature on Scimitar syndrome in adult patients.
• Data were collected from published case reports and series focusing on adult presentations.
• Clinical features, diagnostic methods, and management strategies were analyzed.

Main Results:

• The most frequent presentations in adults include recurrent chest infections and exertional dyspnea.
• Pulmonary artery hypertension and hemoptysis are reported as uncommon features in adult Scimitar syndrome.
• Associated cardiac anomalies, such as atrial septal defects, are frequently observed.

Conclusions:

• Scimitar syndrome in adults often presents insidiously with respiratory symptoms, necessitating a high index of suspicion.
• While pulmonary hypertension and hemoptysis are rare, their occurrence should prompt further investigation for underlying causes like Scimitar syndrome.
• Early diagnosis and appropriate management can improve outcomes for patients with this rare congenital disorder.